Chromosomal abnormality | Features | Chromosomal locus (gene symbol) | Percent of individuals with this disorder who have Hirschsprung disease |
Down syndrome | Intellectual disability, short stature, congenital heart disease, craniofacial features | Trisomy 21 | 0.6 to 3% |
Deletion 10q | Intellectual disability, hypotonia | del 10q11.2 (RET) | Unknown |
Deletion 13q | Intellectual disability, growth failure, craniofacial features | del 13q22 (EDNRB) | Unknown |
Deletion 2q22 | Intellectual disability, microcephaly, craniofacial features, seizures | del 2q22 (ZFHX1B) | Unknown |
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